{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:48:47Z","timestamp":1785808127665,"version":"3.56.0"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T00:00:00Z","timestamp":1558396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Clinical Research Hospital Program from the French Ministry of Health","award":["Project number 14-12, year 2010"],"award-info":[{"award-number":["Project number 14-12, year 2010"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To describe the clinico\u2010radiological phenotype of children with a <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> mutation and to precisely evaluate their learning ability and cognitive status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Children between the ages of 3 and 18\u00a0years harboring a pathogenic <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> mutation associated with episodic ataxia, hemiplegic migraine, benign paroxysmal torticollis, benign paroxysmal vertigo, or benign paroxysmal tonic upgaze, were enrolled in this cross\u2010sectional study. Data concerning psychomotor development, academic performance, educational management, clinical examination at inclusion, and brain imaging were collected. Cognitive assessment was performed using age\u2010standardized scales.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighteen patients (nine males, nine females; mean age at inclusion: 11y 7mo [<jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 4y 5mo; range 3y\u201317y 11mo]) from 14 families were enrolled. Eleven patients displayed the coexistence or consecutive occurrence of more than one type of episodic event. Nine patients exhibited abnormal neurological examination at inclusion. Brain magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) showed cerebellar atrophy in five patients. Psychomotor development was delayed in nine patients and academic difficulties were reported by the parents in 15 patients; nine patients were in special education. Impairment of intellectual function was assessed in six of the 12 patients with interpretable Full\u2010scale <jats:styled-content style=\"fixed-case\">IQ<\/jats:styled-content> scores and was more frequent when cerebellar atrophy was present on <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Cognitive impairment is commonly associated with <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> mutations. We suggest that <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic>\u2010associated phenotype should be considered a neurodevelopmental disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Cognitive disabilities and academic difficulties are common in children with <jats:italic>CACNA1A<\/jats:italic> mutations associated with episodic syndromes.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Cognitive function ranges from normal to moderate intellectual disorder in wheelchair\u2010dependent children.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Patients with vermian atrophy are at a higher risk of cognitive impairment.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14261","type":"journal-article","created":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T07:22:15Z","timestamp":1558509735000},"page":"330-337","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Cognitive impairment in children with <i><scp>CACNA<\/scp>1A<\/i> mutations"],"prefix":"10.1111","volume":"62","author":[{"given":"Veronique","family":"Humbertclaude","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine Psychologique Enfants et Adolescents CHU Saint Eloi Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Riant","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Groupe hospitalier Lariboisi\u00e8re\u2010Fernand Widal AP\u2010HP Paris France"},{"name":"INSERM UMR\u2010S740 Universit\u00e9 Paris 7 Denis 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